Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002895 (sickle cell disease)
11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Prior to recent advances in the field of molecular biology, prenatal diagnosis of hemoglobinopathies was accomplished by direct analysis of the gene product(s) in samples obtained by fetoscopy or, more recently, percutaneous umbilical blood sampling. The use of the polymerase chain reaction enables quicker diagnosis than with indirect or cumbersome Southern blot techniques. This case, reporting a couple at risk for fetal sickle cell disease, is a model for rapid prenatal diagnosis and demonstrates the capabilities which exist in the military health care referral system. Within 24 hours of a couple's presentation for consultation and accomplishment of chorionic villus sampling (CVS), preliminary results of both cytogenetic and sickle cell status of an at-risk fetus were determined. Final analysis was accomplished by 48 hours. The combination of early referral, early sampling by CVS, and application of advances in DNA laboratory technologies offers tremendous improvements for care heretofore unavailable as a complete "package" in the military. The implications and limitations for prenatal testing for single gene disorders within the military medical health care system will be discussed.
Mil Med 1991 Dec
PMID:Molecular analysis and chorionic villus sampling (CVS): opportunities for rapid prenatal diagnosis in the military. 178 70

The insertion of a penile prosthesis for reduction of ischemic priapism has previously been described for cases of sickle cell disease, delayed presentation, or failure of previous shunt surgery. We report the first case of immediate insertion of a malleable prosthesis as primary surgical therapy for refractory ischemic priapism in a patient with known preexisting erectile dysfunction. We propose a novel management algorithm incorporating the acute insertion of a penile prosthesis as an effective option in the management of refractory ischemic priapism.
Mil Med 2007 Nov
PMID:Immediate insertion of a semirigid penile prosthesis for refractory ischemic priapism. 1806 99

Sickle cell trait, a trait known to be protective against falciparum malaria, is prevalent in the African American community. Unlike true sickle cell disease, sickle cell trait is currently not a disqualifying condition for military service. In the case below, we describe an occurrence, from Logar Provence, Afghanistan (2,072 m above mean sea level), of exertional acute rhabdomyolysis in an American service member known to be a sickle cell trait carrier. The case serves to educate Military Medical providers and Commanders alike, to the increased risk certain training and work environments have on sickle cell trait Service members; it raises the question of what duty limitations, if any, sickle cell carriers should have.
Mil Med 2015 Aug
PMID:Sickle Cell Trait Complicated by Acute Rhabdomyolysis in Military Personnel: A Case Report. 2622 39